title: Results of chromosomal analysis in fetuses with cardiac anomalies as diagnosed by first- and early second-trimester echocardiography.
abstract: Chromosomal analyses were performed in 36 fetuses with cardiac anomalies diagnosed by echocardiography at 11 + 1 to 15 + 6 weeks of gestation. Karyotyping was successful in 35 cases and 17 (48.6%) had anomalies, including five with Turner's syndrome, seven with trisomy 18, four with trisomy 21 and one with triploidy. The commonest cardiac anomaly observed in trisomy 21 was a complete atrioventricular canal; in trisomy 18 was ventricular septal defect; in Turner's syndrome was a hypoplastic aortic arch in combination with hypoplasia of the left ventricle and left ventricular outflow tract; and in the case of triploidy was a ventricular septal defect. These findings confirm the opinion that, in fetuses with chromosomal anomalies, there is a high incidence of cardiac defects. Furthermore, there is a distinct pattern of cardiac defects associated with each chromosomal anomaly.
authors.affiliation: Division of Prenatal Medicine, Medical University Lübeck, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Gembruch
authors.forename: A A
authors.initials: AA
authors.lastname: Baschat
authors.forename: G
authors.initials: G
authors.lastname: Knöpfle
authors.forename: M
authors.initials: M
authors.lastname: Hansmann
mesh_terms: D000649:Amniocentesis; D001783:Blood Flow Velocity; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D018618:Echocardiography, Doppler, Color; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D015203:Reproducibility of Results; D012189:Retrospective Studies; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D014424:Turner Syndrome / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D016216:Ultrasonography, Prenatal